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A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

A girl had rickets due to a gene mutation affecting vitamin D response.

A mutation in the VDR gene affects hair cycling without needing ligand binding.

A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.

A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.

New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.

New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.

A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

A new mutation in the KRT86 gene causes a hair disorder with variable expression.

A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.

Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.

Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.

ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.

The patient's hair was thinner and had fewer lipids due to a genetic mutation.

A specific mutation in PA-PLA1α causes abnormal hair growth.

Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.

A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.

Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.

A mutation in the KRT25 gene causes woolly hair and hair loss.

A new mutation in the KRT86 gene causes monilethrix in a Han family.

A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.